A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)
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myopathy, lactic acidosis, and sideroblastic anemia
MONDO:0000863
progressive external ophthalmoplegia
MONDO:0005181
mitochondrial myopathy with a defect in mitochondrial-protein transport
MONDO:0009638
Barth syndrome
MONDO:0010543
mitochondrial myopathy with diabetes
MONDO:0010773
mitochondrial myopathy with reversible cytochrome C oxidase deficiency
MONDO:0010780